Canonical Allele Identifier: CA8232719
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs780589295
ExAC: 16:88799080 C / A
gnomAD v2: 16-88799080-C-A
gnomAD v4: 16-88732672-C-A
MyVariant Identifiers: chr16:g.88799080C>A (hg19) chr16:g.88732672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732672C>A , CM000678.2:g.88732672C>A GRCh38
NC_000016.9:g.88799080C>A , CM000678.1:g.88799080C>A GRCh37
NC_000016.8:g.87326581C>A NCBI36
NG_042229.1:g.57549G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2725G>T (PIEZO1) MANE Select ENSP00000301015.9:p.Gly909Trp
ENST00000301015.13:c.2725G>T (PIEZO1) ENSP00000301015.9:p.Gly909Trp
ENST00000490756.1:n.309G>T (PIEZO1)
NM_001142864.2:c.2725G>T (PIEZO1) NP_001136336.2:p.Gly909Trp
NM_001142864.3:c.2725G>T (PIEZO1) NP_001136336.2:p.Gly909Trp
NR_103774.1:n.269+1224C>A (HSALR1)
NM_001142864.4:c.2725G>T (PIEZO1) MANE Select NP_001136336.2:p.Gly909Trp
Search 100 bp 5'
Search 100 bp 3'